view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLG2_chr11_83450173_85632344 | 83945968 | T | TTCCTTCC | intron_variant | MODIFIER | HG01099.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0005 a0001c0001t0006g0012 |
2 | 14 | 0.1429 | 7 | c.134 others(28): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 14/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84203581 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0002g0001 others(3): Show |
6 | 12 | 0.5000 | 7 | c.574 others(26): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 8/27 | chr11 | TogoVar | |||||||
DLG3_chrX_70439835_70510490 | 70482660 | G | GTTTTTTT | intron_variant | MODIFIER | HG01516.hp2 HG03540.hp2 NA18747.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0022 a0001c0001t0001g0152 a0001c0001t0001g0162 others(4): Show |
8 | 188 | 0.0426 | 7 | c.152 others(26): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3527410 | C | CTGTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(2): Show | a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0004g0026 others(3): Show |
6 | 18 | 0.3333 | 7 | c.247 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 10/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3567059 | T | TTCATTCA | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(3): Show | a0001c0001t0002g0017 a0001c0001t0003g0068 a0001c0001t0020g0033 others(3): Show |
6 | 80 | 0.0750 | 7 | c.205 others(24): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3601846 | G | GAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0020others(6): Show | a0001c0001t0005g0042 a0001c0001t0012g0053 a0001c0001t0012g0054 others(7): Show |
10 | 19 | 0.5263 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3639755 | C | CTTTTTTT | intron_variant | MODIFIER | HG02965.hp2 HG03209.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0020a0001c0002t0007a0001c0003t0010others(1): Show | a0001c0001t0020g0033 a0001c0002t0007g0022 a0001c0003t0010g0040 others(1): Show |
4 | 38 | 0.1053 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3641411 | C | CCTGTAAT | intron_variant | MODIFIER | HG02135.hp1 HG02257.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0004a0001c0001t0012a0001c0002t0014others(6): Show | a0001c0001t0004g0050 a0001c0001t0012g0053 a0001c0002t0014g0064 others(7): Show |
10 | 80 | 0.1250 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3644401 | T | TTTATTTA | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0042a0001c0004t0032 | a0001c0001t0012g0054 a0001c0001t0042g0080 a0001c0004t0032g0065 |
3 | 59 | 0.0508 | 7 | c.159 others(28): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3848127 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG03130.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0013a0001c0003t0010others(1): Show | a0001c0001t0001g0003 a0001c0001t0013g0060 a0001c0003t0010g0040 others(1): Show |
4 | 19 | 0.2105 | 7 | c.957 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3935140 | T | TAACACAC | intron_variant | MODIFIER | HG01192.hp2 HG02155.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0041a0001c0002t0031others(3): Show | a0001c0001t0004g0026 a0001c0001t0041g0079 a0001c0002t0031g0061 others(3): Show |
6 | 80 | 0.0750 | 7 | c.-72 others(26): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 4265637 | C | CCTTCCCT | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0015a0001c0003t0033 | a0001c0001t0002g0047 a0001c0003t0015g0078 a0001c0003t0033g0077 |
3 | 80 | 0.0375 | 7 | c.-26 others(30): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1509327 | C | CTAAAAAA | intron_variant | MODIFIER | HG01496.hp2 HG02922.hp1 |
a0003 | a0003c0005 | a0003c0005t0002a0003c0005t0004 | a0003c0005t0002g0030 a0003c0005t0004g0037 |
2 | 37 | 0.0541 | 7 | c.172 others(24): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 4/14 | chr8 | TogoVar | |||||||
DLGAP4_chr20_36301339_36533633 | 36312898 | T | TAAGAGGA | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0115 a0001c0001t0021g0114 |
2 | 142 | 0.0141 | 7 | c.-30 others(26): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36467064 | C | CTCTCTCT | intron_variant | MODIFIER | HG01167.hp1 HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0012 | a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0002t0012g0126 |
3 | 127 | 0.0236 | 7 | c.164 others(28): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 7/12 | chr20 | TogoVar | |||||||
DLGAP5_chr14_55143135_55196585 | 55176976 | G | GAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01433.hp1 HG02132.hp1 others(14): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0001 | a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0050 others(14): Show |
17 | 136 | 0.1250 | 7 | c.104 others(22): Show |
DLGAP5 | ENSG00000126787.13 | transcript | ENST00000247191.7 | protein_coding | 8/18 | chr14 | TogoVar | |||||||
DLL3_chr19_39493947_39513469 | 39502258 | G | GTTTATTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(89): Show |
a0003a0008 | a0003c0003a0003c0013a0003c0014others(1): Show | a0003c0003t0001a0003c0013t0001a0003c0014t0001others(1): Show | a0003c0003t0001g0004 a0003c0003t0001g0006 a0003c0003t0001g0009 others(28): Show |
92 | 426 | 0.2160 | 7 | c.410 others(22): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DMAC2L_chr14_50307324_50332957 | 50320275 | A | ATTTTTAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(219): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(85): Show |
222 | 395 | 0.5620 | 7 | c.-5- others(22): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DMC1_chr22_38513948_38575183 | 38557956 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01993.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 others(4): Show |
7 | 140 | 0.0500 | 7 | c.327 others(24): Show |
DMC1 | ENSG00000100206.11 | transcript | ENST00000216024.7 | protein_coding | 5/13 | chr22 | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31162356 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01258.hp1 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0003g0016 others(13): Show |
16 | 26 | 0.6154 | 7 | c.105 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 74/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31214926 | A | ATTTCTTT | intron_variant | MODIFIER | HG01069.hp1 HG01099.hp1 HG01255.hp1 others(23): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0082 a0001c0001t0003g0016 a0001c0001t0006g0097 others(23): Show |
26 | 126 | 0.2063 | 7 | c.936 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31214937 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG01358.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0009t0007others(2): Show | a0001c0001t0001g0059 a0001c0002t0001g0047 a0002c0009t0007g0018 others(2): Show |
5 | 55 | 0.0909 | 7 | c.936 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 64/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31266159 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp1 others(6): Show |
a0001a0004a0014others(4): Show | a0001c0001a0004c0004a0014c0050others(4): Show | a0001c0001t0001a0001c0001t0003a0004c0004t0001others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0003g0035 others(6): Show |
9 | 49 | 0.1837 | 7 | c.922 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 62/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31347001 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG02647.hp1 HG03098.hp1 others(3): Show |
a0001a0002a0034 | a0001c0001a0001c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0004 a0001c0002t0001g0114 a0002c0005t0001g0088 others(3): Show |
6 | 75 | 0.0800 | 7 | c.916 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 61/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31366470 | C | CAAAAAAA | intron_variant | MODIFIER | HG02922.hp2 NA18959.hp1 NA19000.hp1 others(2): Show |
a0001a0007a0014others(2): Show | a0001c0002a0007c0018a0014c0029others(2): Show | a0001c0002t0001a0007c0018t0001a0014c0029t0001others(2): Show | a0001c0002t0001g0114 a0007c0018t0001g0061 a0014c0029t0001g0092 others(2): Show |
5 | 32 | 0.1563 | 7 | c.908 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 60/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31822653 | G | GTGTGTGT | intron_variant | MODIFIER | NA18944.hp1 NA18962.hp1 |
a0001a0029 | a0001c0001a0029c0040 | a0001c0001t0001a0029c0040t0002 | a0001c0001t0001g0082 a0029c0040t0002g0062 |
2 | 29 | 0.0690 | 7 | c.720 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 49/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 31943928 | A | AGAGAGAG | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 |
a0001a0007 | a0001c0002a0007c0019 | a0001c0002t0001a0007c0019t0001 | a0001c0002t0001g0101 a0007c0019t0001g0048 |
2 | 124 | 0.0161 | 7 | c.661 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 45/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32033642 | A | AAAGAAAG | intron_variant | MODIFIER | HG02056.hp1 HG02723.hp2 HG03490.hp1 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0005a0004c0012others(1): Show | a0001c0001t0001a0002c0005t0001a0004c0012t0001others(1): Show | a0001c0001t0001g0020 a0002c0005t0001g0017 a0004c0012t0001g0064 others(1): Show |
4 | 120 | 0.0333 | 7 | c.643 others(28): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32485734 | C | CTTTTTTT | intron_variant | MODIFIER | HG03579.hp1 NA18944.hp1 NA18971.hp1 others(1): Show |
a0002a0013a0029 | a0002c0013a0002c0016a0013c0048others(1): Show | a0002c0013t0002a0002c0016t0001a0013c0048t0001others(1): Show | a0002c0013t0002g0094 a0002c0016t0001g0057 a0013c0048t0001g0066 others(1): Show |
4 | 29 | 0.1379 | 7 | c.262 others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 20/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32554835 | A | AAGGTAAG | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01258.hp1 others(17): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0002c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0001g0050 a0001c0001t0001g0069 a0001c0001t0001g0075 others(17): Show |
20 | 122 | 0.1639 | 7 | c.199 others(26): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32880283 | C | CAAAAAAA | intron_variant | MODIFIER | NA18948.hp1 NA18955.hp1 NA18995.hp1 others(1): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0012a0006c0006others(1): Show | a0001c0001t0001a0004c0012t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0034 a0004c0012t0001g0064 a0006c0006t0001g0013 others(1): Show |
4 | 125 | 0.0320 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32887770 | A | AAAAAAAC | intron_variant | MODIFIER | HG02083.hp1 HG02602.hp1 HG03017.hp1 others(2): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0002t0004a0003c0003t0001others(2): Show | a0001c0001t0001g0050 a0001c0002t0004g0110 a0003c0003t0001g0022 others(2): Show |
5 | 105 | 0.0476 | 7 | c.94- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32968961 | G | GAGGTTGC | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03225.hp1 others(1): Show |
a0002a0003a0014 | a0002c0009a0002c0051a0003c0010others(1): Show | a0002c0009t0007a0002c0051t0003a0003c0010t0007others(1): Show | a0002c0009t0007g0018 a0002c0051t0003g0091 a0003c0010t0007g0010 others(1): Show |
4 | 126 | 0.0317 | 7 | c.93+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33051646 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02683.hp2 HG02976.hp1 others(1): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0009a0009c0015others(1): Show | a0001c0001t0001a0002c0009t0002a0009c0015t0001others(1): Show | a0001c0001t0001g0020 a0002c0009t0002g0112 a0009c0015t0001g0098 others(1): Show |
4 | 47 | 0.0851 | 7 | c.32- others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33129325 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG01358.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0021a0002c0016others(9): Show | a0001c0001t0001a0001c0021t0001a0002c0016t0005others(9): Show | a0001c0001t0001g0012 a0001c0021t0001g0032 a0002c0016t0005g0042 others(10): Show |
13 | 32 | 0.4063 | 7 | c.31+ others(24): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMGDH_chr5_78992564_79074674 | 79006850 | C | CCCCCCCG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0018others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(58): Show |
72 | 339 | 0.2124 | 7 | c.225 others(26): Show |
DMGDH | ENSG00000132837.15 | transcript | ENST00000255189.8 | protein_coding | 14/15 | chr5 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 951293 | A | AACTGATG | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0004 | a0001c0001t0002g0085 a0001c0001t0002g0121 a0001c0001t0002g0252 others(2): Show |
5 | 304 | 0.0164 | 7 | c.968 others(26): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAA | intron_variant | MODIFIER | NA18950.hp1 NA18960.hp1 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0028 a0001c0001t0002g0013 a0001c0001t0004g0018 others(5): Show |
8 | 34 | 0.2353 | 7 | c.-94 others(26): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMTN_chr8_22051814_22087525 | 22072631 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0015 | a0001c0001t0003g0008 a0001c0001t0003g0083 a0001c0001t0003g0084 others(4): Show |
10 | 17 | 0.5882 | 7 | c.729 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22075516 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021 | a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0026 others(13): Show |
22 | 34 | 0.6471 | 7 | c.835 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22078798 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(112): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(76): Show |
115 | 126 | 0.9127 | 7 | c.836 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01169.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021 | a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0087 others(9): Show |
14 | 158 | 0.0886 | 7 | c.836 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119089293 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp2 HG02083.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0116 |
2 | 172 | 0.0116 | 7 | c.88- others(22): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51567042 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG02145.hp1 others(4): Show |
a0002a0016 | a0002c0002a0002c0008a0016c0026 | a0002c0002t0001a0002c0002t0010a0002c0008t0001others(1): Show | a0002c0002t0001g0250 a0002c0002t0001g0274 a0002c0002t0001g0285 others(4): Show |
7 | 195 | 0.0359 | 7 | c.285 others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | |||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG02922.hp2 HG04204.hp1 others(19): Show |
a0002a0011a0015 | a0002c0004a0011c0034a0015c0024 | a0002c0004t0001a0002c0004t0008a0011c0034t0007others(1): Show | a0002c0004t0001g0009 a0002c0004t0001g0291 a0002c0004t0001g0292 others(18): Show |
22 | 155 | 0.1419 | 7 | c.88- others(16): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | |||||||
DNA2_chr10_68409064_68476973 | 68441844 | C | CAATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(20): Show | a0001c0001t0001g0090 a0001c0001t0001g0169 a0001c0001t0001g0192 others(152): Show |
158 | 322 | 0.4907 | 7 | c.141 others(26): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55163312 | A | ATTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0002a0011 | a0002c0003a0011c0014 | a0002c0003t0001a0011c0014t0001 | a0002c0003t0001g0059 a0002c0003t0001g0071 a0002c0003t0001g0073 others(3): Show |
6 | 210 | 0.0286 | 7 | c.323 others(24): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433858 | A | ATATAATT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(42): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0006a0009c0009t0001 | a0002c0002t0001g0001 a0002c0002t0001g0066 a0002c0002t0001g0068 others(41): Show |
45 | 336 | 0.1339 | 7 | c.104 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55433948 | A | ATATATTT | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03579.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 others(2): Show |
5 | 336 | 0.0149 | 7 | c.104 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55473198 | A | AAAAAAAT | intron_variant | MODIFIER | HG02647.hp2 HG02738.hp1 HG03927.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0001g0165 others(3): Show |
6 | 162 | 0.0370 | 7 | c.406 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar |